Phenotype #0000302336

Individual ID	00410232
Associated disease	-
Phenotype details	history: night blindness and visual field loss noted in third decade; best corrected visual acuity right, left eye Snellen (logMAR): 0.12 (0.9), 0.3 (0.5); amblyopia; refraction right/left eye: -6.25 to 2.50 x 25 deg, -3.00 to 3.00 x 180deg; lens: posterior subcapsular cataract; ophthalmoscopy: moderate pallor optic discs; severely attenuated vessels; mild bull's eye-like lesions; retinal pigment epithelium atrophy periphery with intraretinal bone-spicule pigmentations; Goldmann perimetry: constricted up to 5deg with small temporal island both eyes; optical coherence tomography: preserved retinal pigment epithelium and photoreceptors in the macular region; fundus autofluorescence: hyper-autofluorescent ring around the fovea, with hypo-autofluorescent spots in the midperip
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	43y (43 years)
Age/Diagnosis	-
Age/Onset	29y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-20 15:46:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD